E63A (p.Glu63Ala) variant of KRIT1 (O00522)
E63A (p.Glu63Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E63A (p.Glu63Ala) variant details
- p.Glu63Ala
- ExAC rs774985805
- TOPMed rs774985805
- gnomAD rs774985805
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.26
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available